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Most infants with PMS exhibit normal growth before birth (intrauterine growth) with normal growth after birth (postnatally).

There is currently no cure or treatment specifically for PMS, but many of the symptoms are managed by therapies and/or medications and researchers are working diligently to improve the understanding and knowledge of PMS and to find drugs and therapies that can improve the lives of people affected by PMS.Ĭurrent research indicates that the inability of the single functioning copy of the SHANK3 gene to produce sufficient SHANK3 protein for normal functioning (haploinsufficiency) may be responsible for most of the neurologic symptoms (developmental and speech delay, hypotonia, seizures) associated with PMS. Individuals with PMS may also present with gastrointestinal, renal and cardiac problems. Other common characteristics are behavioral issues including autism spectrum disorder or autistic-like traits, decreased perception of pain, motor delays, sleep disorders and seizures. Although the range and severity of symptoms may vary, PMS is generally characterized by neonatal hypotonia (low muscle tone in the newborn), intellectual disability of varying degrees, absent to severely delayed speech, moderate to profound developmental delay, and minor dysmorphic features.

Because the genetic change varies in terms of the size of the deleted segment of chromosome 22 or the specific pathogenic variant of SHANK3, the signs and symptoms of PMS are variable as well and can cause a wide range of medical, intellectual and behavioral challenges. The genetic change that causes PMS can occur sporadically ( de novo) or be inherited from a parent (20%) who carries a related genetic change.

Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing (pathogenic) variant of the SHANK3 gene. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community.

A Long Journey to an Uncertain End for mac instal free